Výsledky vyhledávání

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

Autor: Orly Eshach Adiv, Liza Konnikova, Sarah Wall, Scott B. Snapper, Adi Mory, Dror S. Shouval, Ron Shaoul, Alina Kurolap, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Hagit Baris Feldman, Vanessa Mitsialis, Tamar Paperna, M. Steinberg, John D. Overton, Lael Werner, Moran Nunberg, Yaniv Zohar

Publikováno v: Journal of Clinical Immunology. 39:430-439

This study aimed to characterize the clinical phenotype, genetic basis, and consequent immunological phenotype of a boy with severe infantile-onset colitis and eosinophilic gastrointestinal disease, and no evidence of recurrent or severe infections.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d977d73e2e5e141e1b39b18a7dddd84
https://doi.org/10.1007/s10875-019-00631-6

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Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency

Autor: Yaniv Zohar, Arcadi Vachyan, Tova Hershkovitz, Dror Mevorach, Orly Eshach Adiv, Nadav Slijper, Netanel Karbian, Adi Mory, Alina Kurolap, Ran Steinberg, Adi Tabib, Hagit Baris Feldman, Tamar Paperna

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition. 68:325-333

Loss of the complement inhibitor CD55 leads to a syndrome of early-onset protein-losing enteropathy (PLE), associated with intestinal lymphangiectasia and susceptibility to large-vein thrombosis. The in vitro and short-term treatment benefits of ecul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e641719f0456fa0430dff221e8e865ca
https://doi.org/10.1097/mpg.0000000000002198

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Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis

Autor: Hanna Mandel, Anat Yahav Dovrat, Aharon Gefen, Ron Shaoul, Sultan Mutaz, Orly Eshach Adiv, Galit Tal, Ronit Elhasid, Irina Zaidman

Publikováno v: Pediatric Blood & Cancer. 68

Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive autosomal recessive disorder characterized by cachexia, gastrointestinal (GI) dysmotility, ptosis, peripheral neuropathy, and brain magnetic resonance imaging (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52db4b532b9377280adceb1e4fdfa352
https://doi.org/10.1002/pbc.28926

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Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Autor: Hagit N. Baris, Yaniv Zohar, Alina Kurolap, Katya Dolnikov, Fabian Glaser, Marielle Kaplan, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Gidon Berger, Tamar Paperna, John D. Overton, Adi Mory, Orly Eshach-Adiv, Tova Hershkovitz

Publikováno v: Journal of Medical Genetics. 55:779-784

BackgroundIntestinal integrity is essential for proper nutrient absorption and tissue homeostasis, with damage leading to enteric protein loss, that is, protein-losing enteropathy (PLE). Recently, homozygous nonsense variants in the plasmalemma vesic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bd4d5900478d46cc6d28b7bace2d6198
https://doi.org/10.1136/jmedgenet-2018-105299

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Akademický článek

Influence of co-administration of oral insulin and docosahexaenoic acid in mice

Autor: Adiv, Orly Eshach, Mandel, Hannah, Shehadeh, Naim, Knopf, Carlos, Shen–or, Zila, Shamir, Raanan

Publikováno v: In The Journal of Nutritional Biochemistry 2004 15(10):638-643

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Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

Publikováno v: New England Journal of Medicine. 377:87-89

CD55 (complement decay-accelerating factor) inhibits the alternative and classical arms of the complement pathway. Three patients with protein-losing enteropathy and a genetic variant predicted to result in loss of function of CD55 had a response to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3daa3ad75a6f0aecc90464f52643c61
https://doi.org/10.1056/nejmc1707173

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Highly Selective Eating in Autism Spectrum Disorder Leading to Scurvy: A Series of Three Patients

Autor: Daniella Militianu, Ahmad Haj, Yonatan Butbul Aviel, Sarit Ravid, Ram Weiss, Rana Swed-Tobia, Orly Eshach

Publikováno v: Pediatric neurology. 94

Background Some children with autism spectrum disorder (ASD) have highly specific food selectivity and therefore are prone to nutritional deficiencies of different kinds. Patients We document three children with ASD who presented with refusal to walk

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1b400cc4c5a8b1c06d9f5e04cb44a7
https://pubmed.ncbi.nlm.nih.gov/33485032

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Establishing the role of

Autor: Alina, Kurolap, Orly, Eshach-Adiv, Claudia, Gonzaga-Jauregui, Katya, Dolnikov, Adi, Mory, Tamar, Paperna, Tova, Hershkovitz, John D, Overton, Marielle, Kaplan, Fabian, Glaser, Yaniv, Zohar, Alan R, Shuldiner, Gidon, Berger, Hagit N, Baris

Publikováno v: Journal of medical genetics. 55(11)

Intestinal integrity is essential for proper nutrient absorption and tissue homeostasis, with damage leading to enteric protein loss, that is, protein-losing enteropathy (PLE). Recently, homozygous nonsense variants in the plasmalemma vesicle-associa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::667af7bfbc07024af72099b2384e2e5e
https://pubmed.ncbi.nlm.nih.gov/29875123

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